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1دورية أكاديمية
المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony
المصدر: American Journal of Human Genetics. 109(8)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3tc3h13fTest
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المصدر: American journal of human genetics, vol 109, iss 8
مصطلحات موضوعية: DNA Copy Number Variations, systematic phenotyping, Intellectual and Developmental Disabilities (IDD), Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, iPSCs, Patient Advocacy, community engagement, infrastructure, Medical and Health Sciences, patient centered, team science, Genetics, Humans, genomic disorders, CNVs, Genetics & Heredity, neurological, Genome, neurodevelopment, Human Genome, Neurosciences, structural variants, Biological Sciences, Brain Disorders, biobank, Phenotype, copy-number variants, inclusion, Neurodevelopmental Disorders, patient led, long-read sequencing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::cd8f9d889d382bba628948109c91d0b8Test
https://escholarship.org/uc/item/3tc3h13fTest -
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المؤلفون: Enrico Grosso, A. Maffe, Malte Spielmann, L Sorasio, G. Zacchetti, E. Di Gregorio, Elisa Savin, Roberto Keller, A. Guala, Irene Bagnasco, M. Cirillo Silengo, Marina Gandione, Cecilia Mancini, S De Rubeis, Marta Ferrero, Elisa Giorgio, Giorgia Mandrile, Alessandro Calcia, F. Talarico, Giorgia Gai, Fabio Sirchia, Paolo Provero, V. G. Naretto, Simona Cavalieri, Alessandro Brussino, Daniela Giachino, S. Ungari, Evelise Riberi, Gabriella Restagno, Alfredo Brusco, Patrizia Pappi, Barbara Pasini, Elga Fabia Belligni, Andrea Zonta, M. De Marchi, Mara Giordano, Joseph D. Buxbaum, Diana Carli, Elisa Biamino, Alessandra Pelle, Giovanni Battista Ferrero, Ugo Ala, C. Arduino
المصدر: Clinical Genetics. 92:415-422
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test -
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المؤلفون: Glassford, Megan R., Rosenfeld, Jill A., Freedman, Alexa A., Zwick, Michael E., Mulle, Jennifer G.
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Male, Developmental Disabilities, autism spectrum disorder, Chromosome Disorders, 3q29 microdeletion, Humans, Registries, Autistic Disorder, genomic disorders, Child, Research Articles, Genetic Association Studies, Learning Disabilities, copy number variation, Infant, Newborn, Infant, Syndrome, schizophrenia, developmental delay, 3q29 deletion, Phenotype, Child, Preschool, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, patient‐reported outcomes, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::121c9c23ea583f3e8bc7bb42959067ebTest
http://europepmc.org/articles/PMC4849199Test -
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المؤلفون: Lawrence T. Reiter, Kevin A. Hope, Nora Urraca, T. Grant Belgard, Juanma Ramirez, Dave Bridges, Quynh T. Tran, Colleen Valdez, A. Kaitlyn Victor, Sarita Goorha, Silvia Sánchez, Rawaha Memon, Martin Donaldson
المصدر: Molecular Autism, Vol 9, Iss 1, Pp 1-16 (2018)
Molecular Autismمصطلحات موضوعية: 0301 basic medicine, Ubiquitin-Protein Ligases, Autism, Trisomy, Stem cells, Biology, Dup15q, medicine.disease_cause, lcsh:RC346-429, mRNAseq, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, Developmental Neuroscience, Neurogenetic syndrome, Gene duplication, Gene expression, Basic Helix-Loop-Helix Transcription Factors, medicine, UBE3A, Guanine Nucleotide Exchange Factors, Humans, Molecular Biology, Gene, Cells, Cultured, Dental Pulp, lcsh:Neurology. Diseases of the nervous system, Genetics, Chromosomes, Human, Pair 15, Genomic disorders, Mutation, Forkhead Box Protein O1, Research, Nuclear Receptor Subfamily 1, Group F, Member 1, Phenotype, Psychiatry and Mental health, 030104 developmental biology, Angelman Syndrome, Chromosome Deletion, 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b8734232b423ad8edf14676c7b3dccTest
https://doi.org/10.1186/s13229-018-0191-yTest -
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المؤلفون: Stefanie Märzheuser, Heiko Reutter, Franziska Degenhardt, Markus M. Nöthen, Tracie Pennimpede, Hartmut Engels, Lars Wittler, Michael Ludwig, Gabriel C. Dworschak, Markus Draaken, Friedhelm Hildebrandt, Sabine Grasshoff-Derr, Iris A.L.M. van Rooij, Enrika Bartels, Carlo Marcelis, Charlotte Schramm, Eberhard Schmiedeke, Charlotte H. W. Wijers, Alina C. Hilger, Alexander M. Zink, Stuart Hosie, Bernhard G. Herrmann, Stefan Holland-Cunz, Annette M. Müller
المصدر: European journal of human genetics : EJHG ; the official journal of the European Society of Human Genetics
European Journal of Human Genetics, 21, 12, pp. 1377-82
European Journal of Human Genetics, 21, 1377-82مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Candidate gene, DNA Copy Number Variations, Limb Deformities, Congenital, Anal Canal, Tracheoesophageal fistula, Biology, Kidney, Gastroenterology, digestive system, Article, Receptors, G-Protein-Coupled, Anus, Imperforate, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Esophagus, Internal medicine, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Copy-number variation, Genetics (clinical), Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, VACTERL association, Phenotype, Spine, digestive system diseases, Trachea, Radius, medicine.anatomical_structure, Human Reproduction Renal disorder [NCEBP 12], Atresia, Karyotyping, Female, SNP array
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae3804f14a988999d6146fe14e3be0efTest
https://hdl.handle.net/2066/125305Test -
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المؤلفون: R. Pfundt, Caleb Webber, A.P.M. de Brouwer, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, A.T. van Silfhout, L.B.A. de Vries, B W M van Bon, Jayne Y. Hehir-Kwa, I.J. Thoonen, Stephen Meader, N. de Leeuw, C.J. Hellebrekers
المصدر: Human Mutation; Vol 34
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, endocrine system diseases, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Intellectual Disability, Human Phenotype Ontology, mental disorders, Genetics, SNP, Humans, Clinical significance, Abnormalities, Multiple, Copy-number variation, Child, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Chromosome Mapping, Computational Biology, Phenotype, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Severe phenotype, Child, Preschool, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e1b54fd2736dd380f97bd6789f1a3Test
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المؤلفون: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers
المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)
المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
American Journal of Human Genetics, 91, 1073-81مصطلحات موضوعية: Central Nervous System, Male, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, Phospholipase, medicine.disease_cause, PATHWAY, Genotype, Gene Order, Genetics(clinical), PLASTICITY, Child, Genetics (clinical), Genetics, Mutation, Functional imaging [IGMD 1], Phenotype, Magnetic Resonance Imaging, Pedigree, DROSOPHILA, Phospholipases, Child, Preschool, Female, Intracellular, Adult, Adolescent, SEQUENCING DATA, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Genes, Recessive, Neuroimaging, Biology, KIAA0725P, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Translational research [ONCOL 3], Report, medicine, Humans, TRAFFICKING, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], NEUROMUSCULAR-JUNCTION, Phospholipase A, Base Sequence, Spastic Paraplegia, Hereditary, Facies, Lipid metabolism, Glycostation disorders [IGMD 4], medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], nervous system diseases, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], MAMMALIAN SEC23P-INTERACTING PROTEIN
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test -
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المؤلفون: Camiel J. F. Boon, Thomas Theelen, Yara T. E. Lechanteur, Dzenita Smailhodzic, Carel B. Hoyng, Johannes P. H. van de Ven, Anneke I. den Hollander
المصدر: American Journal of Ophthalmology, 154, 3, pp. 560-7
American Journal of Ophthalmology, 154, 560-7مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Visual Acuity, Retinal Drusen, Spectral domain, Retinal Pigment Epithelium, Drusen, Evaluation of complex medical interventions Functional imaging [NCEBP 2], Basement Membrane, Optics, Optical coherence tomography, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Ophthalmology, Odds Ratio, Humans, Medicine, Prospective Studies, Prospective cohort study, Aged, Aged, 80 and over, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, Odds ratio, Middle Aged, medicine.disease, eye diseases, Confidence interval, Extracellular Matrix, Phenotype, medicine.anatomical_structure, Basal Laminar Drusen, Female, Bruch Membrane, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b699448957048b8c15d0f5c46866ce35Test
https://doi.org/10.1016/j.ajo.2012.03.012Test -
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المؤلفون: Ellen van Beusekom, Margit Schraders, Rolph Pfundt, Danijela Petković Ramadža, Christa van den Elzen, Han G. Brunner, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Michael F. Buckley, Karen Buysse, Grazia M.S. Mancini, Eamonn Sheridan, Derek L. Stemple, Christopher P. Bennett, Hans van Bokhoven, Paul Delrée, Yung-Yao Lin, Gita M. B. Tan-Sindhunata, Osama Abd El-Fattah El-Hashash, Dirk J. Lefeber, Joris A. Veltman, Christian Gilissen, Hülya Kayserili, Koenraad Devriendt, Christine E. M. de Die-Smulders, Jeroen van Reeuwijk, Isabelle Maystadt, Erik-Jan Kamsteeg, David Chitayat, Els A. J. Peeters, Umut Altunoglu, Moniek Riemersma, Bernard Grisart, Tony Roscioli, Huiqing Zhou
المساهمون: Human genetics, Other Research, Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction, Public Health, Clinical Genetics
المصدر: Nature Genetics, 44, 581-5
Roscioli, T, Kamsteeg, E J, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C, van Beusekom, E, Riemersma, M, Pfundt, R, Vissers, L E L M, Schraders, M, Altunoglu, U, Buckley, M F, Brunner, H G, Grisart, B, Zhou, H Q, Veltman, J A, Gilissen, C, Mancini, G M S, Delree, P, Willemsen, M A, Ramadza, D P, Chitayat, D, Bennett, C, Sheridan, E, Peeters, E A J, Tan-Sindhunata, M B, de Die-Smulders, C E, Devriendt, K, Kayserili, H, El-Hashash, O A, Stemple, D L, Lefeber, D J, Lin, Y Y & van Bokhoven, H 2012, ' Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan ', Nature Genetics, vol. 44, no. 5, pp. 581-585 . https://doi.org/10.1038/ng.2253Test
Nature Genetics, 44(5), 581-585. Nature Publishing Group
Nature Genetics, 44(5), 581-+. Nature Publishing Group
Nature genetics
Nature Genetics, 44, 5, pp. 581-5
Nature Genetics; Vol 44مصطلحات موضوعية: Embryo, Nonmammalian, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Muscle Fibers, Skeletal, Walker-Warburg syndrome, O-glycosylation, ISPD gene, medicine.disease_cause, Eye, Mannosyltransferases, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Zebrafish, Genetics, 0303 health sciences, Mutation, Fukutin-related protein, biology, Brain, Walker-Warburg Syndrome, musculoskeletal system, Phenotype, Child, Preschool, Congenital muscular dystrophy, musculoskeletal diseases, animal structures, DCN MP - Plasticity and memory, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, medicine, Animals, Humans, Walker–Warburg syndrome, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Glycostation disorders [IGMD 4], medicine.disease, biology.organism_classification, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e284bf358b33bcd86598fbcd6a329e8Test
https://hdl.handle.net/2066/108772Test